| Metadata | |
|---|---|
| ID | DOID:14773 |
| Name | cartilage-hair hypoplasia |
| Definition | An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia, https://www.ncbi.nlm.nih.gov/pubmed/11207361 |
| Xrefs |
SNOMEDCT_US_2023_03_01:234421004 |
| Alternateids |
DOID:0080022 |
| Subsets |
NCIthesaurus |
| Synonyms |
CHH [EXACT] McKusick type metaphyseal chondrodysplasia [EXACT] Metaphyseal chondrodysplasia, McKusick type [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |